Sian Ellard Peninsula Medical School

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Profile | University of Exeter Medical School | University …

https://medicine.exeter.ac.uk/people/profile/index.php?web_id=Sian_Ellard

Sian is a Professor Emerita of the College of Medicine and Health. She was formerly Professor of Genomic Medicine at the University of Exeter Medical School, Scientific …

Emery's Elements of Medical Genetics and …

https://www.elsevier.com/books/emerys-elements-of-medical-genetics-and-genomics/turnpenny/978-0-7020-7966-5

Description. Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete …

Maturity onset diabetes of the young: identification and …

https://journals.sagepub.com/doi/abs/10.1177/0004563213483458

Sian Ellard Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK Department of Molecular Genetics, Royal Devon …

Emery's Elements of Medical Genetics and Genomics - Elsevier

https://educate.elsevier.com/book/details/9780702079665

Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text …

An In-Frame Deletion in Kir6.2 (KCNJ11) Causing …

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7611921/

Sian Ellard Institute of Biomedical and Clinical Research, Peninsula Medical School, Exeter EX2 5DW, United Kingdom Find articles by Sian Ellard Frances M. …

Using SIFT and PolyPhen to predict loss-of-function and …

https://pubmed.ncbi.nlm.nih.gov/20642364/

Aim: The aim of our study was to test the predictive value of two of these tools, sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen), in a set of 141 …

Maturity onset diabetes of the young: identification …

https://journals.sagepub.com/doi/pdf/10.1177/0004563213483458

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Paternal Uniparental Isodisomy of Chromosome 11p15.5 …

https://pubmed.ncbi.nlm.nih.gov/22654821/

S E Flanagan 1 , R R Kapoor, V V Smith, K Hussain, Sian Ellard. Affiliation 1 Institute ... Peninsula Medical School, University of Exeter Exeter, UK. PMID: 22654821 …

Peninsula Medical School - University of …

https://www.plymouth.ac.uk/schools/peninsula-medical-school

The Peninsula Medical School is committed to three core aims: outstanding clinical education; strong social engagement; and world-class research which will all …

Evolve Resources for Emery's Elements of Medical …

https://evolve.elsevier.com/cs/product/9780702066917

Peter D Turnpenny, BSc MB ChB DRCOG DCH FRCP FRCPCH FRCPath FHEA, Consultant Clinical Geneticist, Royal Devon and Exeter Hospital Senior Clinical …

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